Mutagenetix > Incidental Mutation

Incidental Mutation 'R6311:Prdm12'

509757

Institutional Source

Beutler Lab

Gene Symbol

Prdm12

Ensembl Gene

ENSMUSG00000079466

Gene Name

PR domain containing 12

Synonyms

LOC381359

MMRRC Submission

044469-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6311 (G1)

Quality Score

89.0077

Status

Not validated

Chromosome

Chromosomal Location

31530049-31545807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31544321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 308 (Y308C)

Ref Sequence

ENSEMBL: ENSMUSP00000109098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113470]

AlphaFold

A2AJ77

Predicted Effect

probably benign
Transcript: ENSMUST00000113470
AA Change: Y308C

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109098
Gene: ENSMUSG00000079466
AA Change: Y308C

Domain	Start	End	E-Value	Type
SET	86	209	1.24e-4	SMART
ZnF_C2H2	243	265	5.5e-3	SMART
ZnF_C2H2	271	293	1.82e-3	SMART
ZnF_C2H2	299	323	2.17e-1	SMART
low complexity region	329	362	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,773,911 (GRCm39)	I1044T	probably damaging	Het
Arhgef4	T	G	1: 34,763,062 (GRCm39)	F773V	unknown	Het
B4galnt4	A	G	7: 140,648,572 (GRCm39)	N696S	probably damaging	Het
Cdh16	T	A	8: 105,341,065 (GRCm39)	D786V	probably benign	Het
Cdh8	T	C	8: 100,127,527 (GRCm39)	Y28C	probably damaging	Het
Cgn	C	T	3: 94,685,486 (GRCm39)		probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chst10	A	G	1: 38,907,128 (GRCm39)	V174A	probably damaging	Het
Clca4a	T	A	3: 144,672,174 (GRCm39)	N256I	probably damaging	Het
Cntnap5a	G	A	1: 116,339,836 (GRCm39)	W698*	probably null	Het
Ddx24	C	A	12: 103,390,166 (GRCm39)	R275L	probably damaging	Het
Dnmt3b	G	T	2: 153,515,925 (GRCm39)	G444V	probably damaging	Het
Ermn	A	G	2: 57,941,771 (GRCm39)	F109S	probably damaging	Het
Fam227a	C	T	15: 79,524,895 (GRCm39)	A190T	probably benign	Het
Fstl4	T	C	11: 53,067,804 (GRCm39)	W556R	probably damaging	Het
Fut2	T	A	7: 45,299,804 (GRCm39)	I323F	possibly damaging	Het
Grik2	T	G	10: 49,454,234 (GRCm39)	K94Q	probably damaging	Het
Hsd3b5	T	C	3: 98,537,406 (GRCm39)	R37G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,648,816 (GRCm39)		probably null	Het
Lrriq1	A	T	10: 103,009,254 (GRCm39)	D1076E	probably benign	Het
Mical2	T	A	7: 111,922,765 (GRCm39)	I590N	probably damaging	Het
Mycbp2	A	G	14: 103,500,176 (GRCm39)	L940P	possibly damaging	Het
Nr6a1	T	C	2: 38,629,083 (GRCm39)	I257V	possibly damaging	Het
Or5b100-ps1	T	A	19: 12,993,935 (GRCm39)	M116K	probably damaging	Het
Or6c216	A	G	10: 129,678,776 (GRCm39)	L45P	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,316 (GRCm39)		probably null	Het
Pdcl3	A	G	1: 39,026,925 (GRCm39)	M1V	probably null	Het
Pdzd2	T	A	15: 12,458,274 (GRCm39)	E196D	probably damaging	Het
Pgm1	T	C	4: 99,827,237 (GRCm39)	F379S	possibly damaging	Het
Pgm2	G	A	5: 64,273,758 (GRCm39)	C581Y	probably benign	Het
Plbd1	T	A	6: 136,590,945 (GRCm39)	H407L	probably benign	Het
Prdm15	T	C	16: 97,600,255 (GRCm39)	E893G	probably null	Het
Slc34a1	A	G	13: 23,999,005 (GRCm39)	T133A	probably benign	Het
Slc9a8	T	A	2: 167,293,140 (GRCm39)	S163T	probably damaging	Het
Sult2a3	T	C	7: 13,845,482 (GRCm39)	I126V	probably benign	Het
Tlr1	C	T	5: 65,084,188 (GRCm39)	D130N	probably damaging	Het
Ugt3a1	A	T	15: 9,361,604 (GRCm39)	K127*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het

Other mutations in Prdm12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0674:Prdm12	UTSW	2	31,533,924 (GRCm39)	missense	probably benign	0.23
R1424:Prdm12	UTSW	2	31,533,823 (GRCm39)	missense	probably damaging	1.00
R1434:Prdm12	UTSW	2	31,530,319 (GRCm39)	missense	possibly damaging	0.73
R1495:Prdm12	UTSW	2	31,530,205 (GRCm39)	missense	probably damaging	1.00
R1509:Prdm12	UTSW	2	31,544,186 (GRCm39)	missense	probably damaging	1.00
R2135:Prdm12	UTSW	2	31,530,325 (GRCm39)	missense	possibly damaging	0.73
R2432:Prdm12	UTSW	2	31,541,864 (GRCm39)	missense	probably benign	0.02
R3801:Prdm12	UTSW	2	31,541,959 (GRCm39)	missense	probably damaging	0.96
R6092:Prdm12	UTSW	2	31,533,889 (GRCm39)	missense	probably damaging	1.00
R6511:Prdm12	UTSW	2	31,530,321 (GRCm39)	missense	probably damaging	0.99
R7252:Prdm12	UTSW	2	31,532,386 (GRCm39)	missense	possibly damaging	0.92
R7292:Prdm12	UTSW	2	31,533,862 (GRCm39)	missense	probably damaging	1.00
R7686:Prdm12	UTSW	2	31,530,229 (GRCm39)	missense	probably damaging	0.96
R7747:Prdm12	UTSW	2	31,543,883 (GRCm39)	splice site	probably null
R7872:Prdm12	UTSW	2	31,530,231 (GRCm39)	missense	probably damaging	1.00
R8077:Prdm12	UTSW	2	31,532,316 (GRCm39)	missense	probably damaging	0.99
R9108:Prdm12	UTSW	2	31,533,929 (GRCm39)	missense	possibly damaging	0.95
R9231:Prdm12	UTSW	2	31,530,265 (GRCm39)	missense	probably benign	0.05
R9391:Prdm12	UTSW	2	31,544,162 (GRCm39)	missense	probably benign	0.30
X0023:Prdm12	UTSW	2	31,530,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGATCACAGCCATGACCCG -3'
(R):5'- TCCTCTGCAAGACGGATCAG -3'

Sequencing Primer
(F):5'- ATGCGCTGCGTCATCTG -3'
(R):5'- ACGGATCAGGAGTGGGTTCC -3'

Posted On

2018-04-02